A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene

A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene

Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases caused by mutation of glucocerebrosidase (GBA1) gene. GD patients develop symptoms in various organs of the body; however, the underlying mechanisms causing pathology are still elusive. Thus, a suitable disease model is imp...

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Bibliographic Details
Main Authors: Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas
Other Authors: Ramathibodi Hospital
Format: Article
Published: 2022
Subjects:
Biochemistry, Genetics and Molecular Biology
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/73380
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Institution: Mahidol University
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Summary:Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases caused by mutation of glucocerebrosidase (GBA1) gene. GD patients develop symptoms in various organs of the body; however, the underlying mechanisms causing pathology are still elusive. Thus, a suitable disease model is important in order to facilitate subsequent investigations. Here, we established MUi031-A human induced pluripotent stem cell (hiPSC) line from CD34+ hematopoietic stem cells of a female type-3 GD patient with homozygous c.1448 T > C (L444P) mutation. The cells exhibited embryonic stem cell-like characteristics and expressed pluripotency markers with capability to differentiate into three germ layers.

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